Mutagenetix > Incidental Mutation

Incidental Mutation 'R4074:5830473C10Rik'

316453

Institutional Source

Beutler Lab

Gene Symbol

5830473C10Rik

Ensembl Gene

ENSMUSG00000070690

Gene Name

RIKEN cDNA 5830473C10 gene

Synonyms

Gm17754, ARG

MMRRC Submission

040855-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R4074 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90561107-90597871 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 90592868 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000092198 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094615]

AlphaFold

F8VQ07

Predicted Effect

probably null
Transcript: ENSMUST00000094615

SMART Domains

Protein: ENSMUSP00000092198
Gene: ENSMUSG00000070690

Domain	Start	End	E-Value	Type
ALBUMIN	17	207	8.87e-26	SMART
ALBUMIN	214	399	1.45e-53	SMART
ALBUMIN	406	598	7.07e-43	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200783

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200893

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

95% (63/66)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	T	C	2: 19,480,590	E422G	probably damaging	Het
8430408G22Rik	A	G	6: 116,652,068	N124S	possibly damaging	Het
Ace3	A	G	11: 105,997,214	Y287C	probably damaging	Het
Arfgap3	C	T	15: 83,303,129	A510T	probably damaging	Het
Atg12	A	G	18: 46,737,424	F92L	probably benign	Het
Axl	A	G	7: 25,763,911		probably benign	Het
Chgb	C	A	2: 132,793,927	D596E	possibly damaging	Het
Cmtr2	T	A	8: 110,221,217	F53Y	possibly damaging	Het
Cnot10	A	G	9: 114,622,947	F254L	possibly damaging	Het
Crb2	G	T	2: 37,786,843	C251F	probably damaging	Het
Crybg3	A	T	16: 59,555,757		probably benign	Het
Cytl1	A	G	5: 37,735,596	I17V	unknown	Het
D930020B18Rik	A	G	10: 121,656,218		probably benign	Het
Dnah11	A	G	12: 118,045,678	M2083T	probably benign	Het
Dst	A	G	1: 34,192,269	E2656G	probably benign	Het
Dst	T	C	1: 34,228,461	F4995L	probably damaging	Het
Egf	C	T	3: 129,735,969	R264Q	probably benign	Het
Eps15l1	A	G	8: 72,380,284	I482T	probably damaging	Het
Eqtn	A	G	4: 94,919,962	I201T	possibly damaging	Het
Ero1l	A	T	14: 45,292,436		probably null	Het
Etl4	T	C	2: 20,809,219		probably benign	Het
Fcho1	T	C	8: 71,710,369	H672R	probably damaging	Het
Glt6d1	T	C	2: 25,794,127	D289G	probably damaging	Het
Gm16427	A	T	5: 93,485,198	M50K	probably damaging	Het
Gm5134	T	A	10: 76,008,531	W574R	probably damaging	Het
Gm5346	A	T	8: 43,626,350	F279Y	probably damaging	Het
Gm5414	T	C	15: 101,625,553	N332D	probably benign	Het
Gnb3	T	A	6: 124,836,979	E215D	probably benign	Het
Ighv1-30	C	T	12: 114,817,401		noncoding transcript	Het
Ighv1-4	A	G	12: 114,487,527	S15P	possibly damaging	Het
Igkv1-133	T	G	6: 67,725,521	Y74*	probably null	Het
Il17f	G	A	1: 20,777,763		probably benign	Het
Itpr2	C	T	6: 146,373,244		probably null	Het
Krtap31-1	T	C	11: 99,908,232	I87T	possibly damaging	Het
Lilra6	A	T	7: 3,914,890	F85Y	probably benign	Het
Lrig3	C	T	10: 126,013,408	T999I	probably benign	Het
Myh7b	T	C	2: 155,618,758	I277T	probably damaging	Het
Myo3b	T	C	2: 70,289,464	F984S	probably damaging	Het
Naip5	G	A	13: 100,246,064	R46W	probably damaging	Het
Nup205	T	A	6: 35,192,040		probably null	Het
Olfr670	A	T	7: 104,960,716	N5K	probably damaging	Het
Pde11a	C	T	2: 76,337,898	R237H	probably damaging	Het
Pdk4	T	C	6: 5,491,865	N69S	probably benign	Het
Pot1a	T	C	6: 25,752,357		probably null	Het
Psg23	A	T	7: 18,607,118	S404T	possibly damaging	Het
Rev1	T	G	1: 38,054,238	K1075T	possibly damaging	Het
Rrbp1	T	G	2: 143,963,110	Q1045P	probably benign	Het
Scg2	A	C	1: 79,436,857	F50V	probably damaging	Het
Sel1l3	A	G	5: 53,154,287	Y619H	probably damaging	Het
Slco1a5	A	T	6: 142,268,224	I57K	possibly damaging	Het
Srp72	C	A	5: 76,998,251	T633K	probably benign	Het
Swt1	A	G	1: 151,394,769	V565A	probably benign	Het
Tesk1	A	G	4: 43,443,606	I58V	possibly damaging	Het
Tm2d3	T	A	7: 65,697,750	L49*	probably null	Het
Tmprss11e	T	C	5: 86,715,643	T188A	possibly damaging	Het
Tnxb	A	G	17: 34,671,871	N396S	probably benign	Het
Tuba8	T	A	6: 121,222,797	S147T	probably damaging	Het
Usp8	A	G	2: 126,752,370	D822G	probably damaging	Het
Vmn2r13	T	A	5: 109,156,700	I622F	probably damaging	Het
Vmn2r24	A	T	6: 123,787,415	H417L	possibly damaging	Het
Zfp608	A	T	18: 54,898,108	V920E	probably damaging	Het
Zmym2	T	C	14: 56,903,004	L100P	probably damaging	Het

Other mutations in 5830473C10Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02216:5830473C10Rik	APN	5	90579579	unclassified	probably benign
IGL02343:5830473C10Rik	APN	5	90579614	missense	probably damaging	0.99
IGL02749:5830473C10Rik	APN	5	90571765	missense	possibly damaging	0.84
IGL02956:5830473C10Rik	APN	5	90579638	missense	possibly damaging	0.46
R0097:5830473C10Rik	UTSW	5	90584936	missense	probably benign	0.02
R0097:5830473C10Rik	UTSW	5	90584936	missense	probably benign	0.02
R0513:5830473C10Rik	UTSW	5	90577927	missense	probably benign	0.00
R0551:5830473C10Rik	UTSW	5	90572719	missense	probably damaging	1.00
R1508:5830473C10Rik	UTSW	5	90581921	missense	probably benign	0.00
R1797:5830473C10Rik	UTSW	5	90579601	missense	probably damaging	0.99
R2205:5830473C10Rik	UTSW	5	90569562	missense	possibly damaging	0.50
R2323:5830473C10Rik	UTSW	5	90584852	nonsense	probably null
R2440:5830473C10Rik	UTSW	5	90572689	critical splice acceptor site	probably null
R4211:5830473C10Rik	UTSW	5	90564237	missense	probably damaging	1.00
R4426:5830473C10Rik	UTSW	5	90572783	missense	probably damaging	1.00
R4625:5830473C10Rik	UTSW	5	90571752	missense	probably damaging	0.99
R4823:5830473C10Rik	UTSW	5	90566503	missense	probably benign	0.01
R4922:5830473C10Rik	UTSW	5	90579711	missense	possibly damaging	0.84
R4923:5830473C10Rik	UTSW	5	90561299	missense	probably benign	0.07
R5218:5830473C10Rik	UTSW	5	90581918	missense	probably benign	0.34
R5267:5830473C10Rik	UTSW	5	90584857	missense	probably damaging	0.99
R5447:5830473C10Rik	UTSW	5	90584310	missense	probably damaging	1.00
R5737:5830473C10Rik	UTSW	5	90572783	missense	probably damaging	1.00
R5966:5830473C10Rik	UTSW	5	90571687	missense	probably damaging	1.00
R6045:5830473C10Rik	UTSW	5	90584989	missense	possibly damaging	0.86
R6290:5830473C10Rik	UTSW	5	90593005	critical splice donor site	probably null
R6799:5830473C10Rik	UTSW	5	90579615	missense	probably damaging	0.99
R6923:5830473C10Rik	UTSW	5	90577793	missense	probably benign	0.32
R7088:5830473C10Rik	UTSW	5	90572750	nonsense	probably null
R7238:5830473C10Rik	UTSW	5	90579660	missense	probably damaging	1.00
R7319:5830473C10Rik	UTSW	5	90571766	critical splice donor site	probably null
R7631:5830473C10Rik	UTSW	5	90579672	missense	probably damaging	1.00
R7798:5830473C10Rik	UTSW	5	90597511	missense	possibly damaging	0.72
R7821:5830473C10Rik	UTSW	5	90592888	missense	possibly damaging	0.95
R8041:5830473C10Rik	UTSW	5	90593005	critical splice donor site	probably null
R8353:5830473C10Rik	UTSW	5	90566501	missense	possibly damaging	0.67
R8453:5830473C10Rik	UTSW	5	90566501	missense	possibly damaging	0.67
R8762:5830473C10Rik	UTSW	5	90566602	missense	probably benign	0.32

Predicted Primers

PCR Primer
(F):5'- GTGCTCATCACACTAAGCAGG -3'
(R):5'- TCTCACGGTTGCAATAGGG -3'

Sequencing Primer
(F):5'- TCATCACACTAAGCAGGAAGAATTG -3'
(R):5'- TTGCAATAGGGGAAGGATAACACCC -3'

Posted On

2015-05-15